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rs797045502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045502(-;TT)
Make rs797045502(TT;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3810749
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045502
ClinGenrs797045502
ebirs797045502
HLIrs797045502
Exacrs797045502
Varsomers797045502
Maprs797045502
PheGenIrs797045502
hapmaprs797045502
1000 genomesrs797045502
hgdprs797045502
ensemblrs797045502
gopubmedrs797045502
geneviewrs797045502
scholarrs797045502
googlers797045502
pharmgkbrs797045502
gwascentralrs797045502
openSNPrs797045502
23andMers797045502
23andMe allrs797045502
SNP Nexus

SNPshotrs797045502
SNPdbers797045502
MSV3drs797045502
GWAS Ctlgrs797045502
Max Magnitude0
ClinVar
Risk rs797045502(TT;TT)
Alt rs797045502(TT;TT)
Reference Rs797045502(-;-)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3860751_3860752dupAA
CLNSRC
CLNACC RCV000192380.1,